Posts tagged Fragile X/Ataxia Syndrome

Fragile X Tremor/Ataxia Syndrome (FXTAS) is among the most prevalent heritable neurodegenerative disorders. Its symptoms usually develop in men 50 years of age or older and include tremors in arms and hands, balance problems (ataxia), numbness in the extremities, mood instability, short-term memory loss, and gradual intellectual decline. The prevalence of FXTAS is about 2-5 persons per 10,000 in the general population.

The underlying cause for FXTAS is a mutation in the gene for Fragile X Mental Retardation Protein (FMRP), which is located on the X-chromosome; its protein product, Pur-α is essential for normal neural function. Scientists have recently determined the three-dimensional structure More >